Multiplicity as a Factor in Understanding NF1

Crossmark: check for updates

Authors

  • Vincent M. Riccardi, MD, MBA Department of Neurology,The Neurofibromatosis Institute, 5415 Briggs Avenue, La Crescenta, CA 91214, USA

DOI:

https://doi.org/10.17140/NOJ-5-e009

Keywords:

phenotype, schwannomas, vestibular

Abstract

The NF1 locus on the long arm of chromosome 17 is a very
special gene in the human genome. In terms of multiplicity,
there are five pseudogenes on five other chromosomes; it
influences the formation and/or behavior of many tissues; it is
probably the locus with highest germinal mutation rate in humans
(1 in 10,000), with a disease frequency of 1/2,500-1/3,000. There
are several other multiplicities that persist in confounding our
understanding of this very common autosomal dominant disorder.
This editorial focuses on three considerations: 1) How many types
of Neurofibromatosis (NF) are there? 2) How many types of
NF1 neurofibromas are there? 3) What are the logical/causative
relationships of the numerous pathogenetic and clinical elements
of the full-blown syndrome or portions of it?

References

Riccardi VM. The multiple forms of neurofibromatosis. Pediatr Rev. 1982; 3: 292-298.

Riccardi VM, Eichner JE. Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. Baltimore, USA: Johns Hopkins University Press; 1986.

Riccardi VM. Neurofibromatosis: Phenotype, Natural History and Pathogenesis. Baltimore, USA: Johns Hopkins University Press; 1992.

Neurofibromatosis. Conference statement. National institutes of health consensus development conference. Arch Neurol. 1988; 45: 575-578.

Ledbetter DH, Rich DC, O’Conell P, et al. Precise localization of NF-1 to 17q11.2 by balanced translocation. Am J Hum Genet. 1989; 44: 20-24.

Arai E, Ikeuchi T, Nakamura Y. Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2). Hum Molec Genet. 1994; 3: 937-938.

Kluwe L, Siebert R, Gesk S, et al. Screening 500 unselected neurofibromatosis 1 patients for deletions of the Nf1 gene. Hum Mutat. 2004; 23: 111-116. doi: 10.1002/humu.10299

Upadhyaya M, Kluwe L, Spurlock G, et al. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat. 2008; 29: 74-82. doi: 10.1002/humu.20601

Riccardi VM. The genetic predisposition to and histogenesis of neurofibromas and neurofibrosarcoma in neurofibromatosis type 1. Neurosurg Focus. 2007; 22(6): 1-11.

Riccardi VM. Translational genetics and genomics: The fundamental nature of NF1 neurofibromas. J Transl Genet Genom. 2017; 1: 1-12.

Riccardi VM. NF1 clinical elements and the NF1 neurofibroma Burden. Jacobs J Neurol Neurosci. 2016; 3(1): 025.

Masson P. Human tumors: Histology, Diagnosis, Technique. Detroit, USA: Wayne State University Press; 1970.

Riccardi VM. NF1 and the Praxitype. JSM Genet Genomics. 2015; 2: 1006.

Riccardi VM. The Praxitype and Phenotype Hierarchies Exemplified by NF1. Mathews J Neurol. 2017; 2: 1-3. Editorial | Volume 5 | Issue 1|

Downloads

Published

2018-09-10

How to Cite

Vincent M. Riccardi, MD, MBA. (2018). Multiplicity as a Factor in Understanding NF1. Neuro, 5(1), 3–4. https://doi.org/10.17140/NOJ-5-e009

Issue

Volume 5 Issue 1 2018

Section

Articles

License

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

All content published in Neuro (NEURO) is licensed under the Creative Commons Attribution 4.0 International License (CC BY 4.0). This license allows anyone to copy, distribute, transmit, and adapt the work — including for commercial purposes — provided appropriate credit is given to the original author(s) and source.